2dne: Difference between revisions
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{{STRUCTURE_2dne| PDB=2dne | SCENE= }} | {{STRUCTURE_2dne| PDB=2dne | SCENE= }} | ||
===Solution Structure of RSGI RUH-058, a lipoyl domain of human 2-oxoacid dehydrogenase=== | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/ODP2_HUMAN ODP2_HUMAN]] Note=Primary biliary cirrhosis is a chronic, progressive cholestatic liver disease characterized by the presence of antimitochondrial autoantibodies in patients' serum. It manifests with inflammatory obliteration of intra-hepatic bile duct, leading to liver cell damage and cirrhosis. Patients with primary biliary cirrhosis show autoantibodies against the E2 component of pyruvate dehydrogenase complex. Defects in DLAT are the cause of pyruvate dehydrogenase E2 deficiency (PDHE2 deficiency) [MIM:[http://omim.org/entry/245348 245348]]; also known as lactic acidemia due to defect of E2 lipoyl transacetylase of the pyruvate dehydrogenase complex. Pyruvate dehydrogenase (PDH) deficiency is a major cause of primary lactic acidosis and neurological dysfunction in infancy and early childhood. In this form of PDH deficiency episodic dystonia is the major neurological manifestation, with other more common features of pyruvate dehydrogenase deficiency, such as hypotonia and ataxia, being less prominent. | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/ODP2_HUMAN ODP2_HUMAN]] The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and thereby links the glycolytic pathway to the tricarboxylic cycle. | |||
==About this Structure== | ==About this Structure== | ||
Revision as of 10:55, 24 March 2013
Solution Structure of RSGI RUH-058, a lipoyl domain of human 2-oxoacid dehydrogenase
Disease
[ODP2_HUMAN] Note=Primary biliary cirrhosis is a chronic, progressive cholestatic liver disease characterized by the presence of antimitochondrial autoantibodies in patients' serum. It manifests with inflammatory obliteration of intra-hepatic bile duct, leading to liver cell damage and cirrhosis. Patients with primary biliary cirrhosis show autoantibodies against the E2 component of pyruvate dehydrogenase complex. Defects in DLAT are the cause of pyruvate dehydrogenase E2 deficiency (PDHE2 deficiency) [MIM:245348]; also known as lactic acidemia due to defect of E2 lipoyl transacetylase of the pyruvate dehydrogenase complex. Pyruvate dehydrogenase (PDH) deficiency is a major cause of primary lactic acidosis and neurological dysfunction in infancy and early childhood. In this form of PDH deficiency episodic dystonia is the major neurological manifestation, with other more common features of pyruvate dehydrogenase deficiency, such as hypotonia and ataxia, being less prominent.
Function
[ODP2_HUMAN] The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and thereby links the glycolytic pathway to the tricarboxylic cycle.
About this Structure
2dne is a 1 chain structure with sequence from Homo sapiens. Full experimental information is available from OCA.
See Also
Proteopedia Page Contributors and Editors (what is this?)
- Dihydrolipoyllysine-residue acetyltransferase
- Homo sapiens
- Hayashi, F.
- Hirota, H.
- Momen, A Z.M Ruhul.
- RSGI, RIKEN Structural Genomics/Proteomics Initiative.
- Yokoyama, S.
- 2-oxoacid dehydrogenase
- Lipoic acid
- Lipoyl domain
- National project on protein structural and functional analyse
- Nppsfa
- Oxoacid dehydrogenase
- Riken structural genomics/proteomics initiative
- Rsgi
- Structural genomic
- Synthesis of acyl coa
- Transferase
